RPE65 report

I. Expression across cell types

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of RPE65 at tissue level.

III. Associated gene sets

GO_0007601Biological processvisual perception
GO_0001895Biological processretina homeostasis
GO_1901827Biological processzeaxanthin biosynthetic process
GO_0007623Biological processcircadian rhythm
GO_0001523Biological processretinoid metabolic process
GO_0050908Biological processdetection of light stimulus involved in visual perception
GO_0006776Biological processvitamin A metabolic process
GO_0042574Biological processretinal metabolic process
GO_0042572Biological processretinol metabolic process
GO_0003407Biological processneural retina development
GO_0005886Cellular componentplasma membrane
GO_0016020Cellular componentmembrane
GO_0005789Cellular componentendoplasmic reticulum membrane
GO_0044297Cellular componentcell body
GO_0005634Cellular componentnucleus
GO_0003834Molecular functionbeta-carotene 15,15'-dioxygenase activity
GO_0052885Molecular functionall-trans-retinyl-ester hydrolase, 11-cis retinol forming activity
GO_0001786Molecular functionphosphatidylserine binding
GO_0031210Molecular functionphosphatidylcholine binding
GO_0050251Molecular functionretinol isomerase activity
GO_0052884Molecular functionall-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity
GO_0046872Molecular functionmetal ion binding
GO_0016853Molecular functionisomerase activity
GO_1901612Molecular functioncardiolipin binding

IV. Literature review

[source]
Gene nameRPE65
Protein nameRetinoid isomerohydrolase (EC 3.1.1.64) (All-trans-retinyl-palmitate hydrolase) (Lutein isomerase) (Meso-zeaxanthin isomerase) (EC 5.3.3.22) (Retinal pigment epithelium-specific 65 kDa protein) (Retinol isomerase)
Retinal pigment epithelium-specific protein 65 kDa
Mutant retinal pigment epithelium 65KDa protein
Alternative protein RPE65
Retinal pigment epithelium-specific protein
Synonyms
DescriptionFUNCTION: Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans-retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore . Essential for the production of 11-cis retinal for both rod and cone photoreceptors . Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid . The soluble form binds vitamin A (all-trans-retinol), making it available for LRAT processing to all-trans-retinyl ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH (isomerohydrolase) processing to all-cis-retinol. The soluble form is regenerated by transferring its palmitoyl groups onto 11-cis-retinol, a reaction catalyzed by LRAT (By similarity). .

AccessionsH9ND74
Q2EKB8
L8EC55
ENST00000262340.6
Q16518
C7FEP0